STXBP4, syntaxin binding protein 4, 252983

N. diseases: 18; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 Biomarker disease BEFREE Our study results suggest that the LINC00511/miR-185/STXBP4 axis may be a promising therapeutic target for improving the prognosis of breast cancer. 31539133 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 Biomarker disease BEFREE Our study results suggest that the LINC00511/miR-185/STXBP4 axis may be a promising therapeutic target for improving the prognosis of breast cancer. 31539133 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 Biomarker disease BEFREE From the concordance analysis of ranking system of GWAVA, CADD, and FATHMM, eQTL and protein expression, we identified the deleterious SNPs localized in STXBP4 and ZNF404 genes which might play a role in BC development by dysregulating its gene expression. 28422318 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 Biomarker disease BEFREE From the concordance analysis of ranking system of GWAVA, CADD, and FATHMM, eQTL and protein expression, we identified the deleterious SNPs localized in STXBP4 and ZNF404 genes which might play a role in BC development by dysregulating its gene expression. 28422318 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 GeneticVariation disease BEFREE We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). 27600471 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease BEFREE We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). 27600471 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 GeneticVariation disease GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 GeneticVariation disease BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 GeneticVariation disease BEFREE We observed that STXBP4/COX11 rs6504950 polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (the allele contrast model: OR = 0.93, 95% CI = 0.87-0.99; the heterozygote codominant model: OR = 0.87, 95% CI = 0.83-0.90; the dominant model OR = 0.92, 95% CI = 0.88-0.96). 22863968 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease BEFREE We observed that STXBP4/COX11 rs6504950 polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (the allele contrast model: OR = 0.93, 95% CI = 0.87-0.99; the heterozygote codominant model: OR = 0.87, 95% CI = 0.83-0.90; the dominant model OR = 0.92, 95% CI = 0.88-0.96). 22863968 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.450 GeneticVariation disease GWASDB Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. 19330027 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.450 GeneticVariation disease GWASCAT Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. 19330027 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 Biomarker group CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 GeneticVariation group BEFREE Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. 27600471 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019